Two Cases of Sitosterolemia Falsely Diagnosed as Familial Hypercholesterolemia: Could Digging Deeper Have Avoided Harm?

Sitosterolemia is a rare monogenic lipid disease characterized by the excessive uptake of phytosterols and their accumulation in blood and tissues. Clinically, it can present with hypercholesterolemia and xanthomas, often causing it to be misdiagnosed as familial hypercholesterolemia (FH). The diagnosis of sitosterolemia can easily be confirmed and distinguished from FH with a sterol profile and genetic investigations.

Exploring Allied Health Models of Care for Children with Developmental Health Concerns, Delays, and Disabilities in Rural and Remote Areas: A Systematic Scoping Review.

Background: Access to appropriate healthcare is essential for children's healthy development. This is lacking in rural and remote areas, impacting health outcomes. Despite efforts to improve access for these communities, to date, no review has systematically mapped the literature on allied health models of care for children with developmental needs.

Hashtag fitspiration: credibility screening and content analysis of Instagram fitness accounts.

Background: Fitspiration is a social media phenomenon purported to inspire viewers to lead healthier lifestyles but can result in negative psychological outcomes such as body dissatisfaction. This study aimed to develop a tool to audit Instagram fitspiration accounts and screen for content that could have potentially negative psychological effects.

Methods: This study developed and implemented an audit tool to (1) identify credible fitspiration accounts (i.

Chronic granulomatous disease presenting at age 52 with fulminant mulch pneumonitis.

Chronic granulomatous disease should be considered in adults of any age in the presence of refractory and/or atypical or fulminant pulmonary infections. This case of new large deletions in was presented with mulch pneumonitis without a significant history of infections.